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Case Reports
. 2021 Jun 1;21(1):256.
doi: 10.1186/s12887-021-02719-8.

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

Affiliations
Case Reports

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

Qingyun Kang et al. BMC Pediatr. .

Abstract

Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported.

Case presentation: A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports.

Conclusions: These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.

Keywords: Case report; DEE; Seizure; TRPM3; Video-EEG.

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Conflict of interest statement

All authors declare that this manuscript has no conflict of interest.

Figures

Fig. 1
Fig. 1
Facial appearance at 7 years and 2 months old. Several facial anomalies, such as broad forehead, short philtrum, micrognathia and prominent lobule of the ear, were observed. We obtained permission from the parents to post this photograph
Fig. 2
Fig. 2
A EEG revealed typical epileptic spasm accompanied by generalized slow waves of high amplitude and fast waves of low amplitude. Hypsarrhythmic waves were observed during the interval between spasms. B EEG revealed tonic seizures accompanied by generalized spike wave rhythms of medium and high amplitude. C Atypical absence status epilepticus was monitored by video EEG
Fig. 3
Fig. 3
Sequencing of the TRPM3 gene: c.3605G > C (p.S1202T). The child has a heterozygous Mutation, and his parents are normal. (a patient; b the father; c the mother)
Fig. 4
Fig. 4
Sequence alignment of TRPM3 proteins from different species. Residue S1202 is highly conserved (indicated by a blue box)

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References

    1. Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512–521. doi: 10.1111/epi.13709. - DOI - PMC - PubMed
    1. Happ HC, Carvill GL. A 2020 view on the genetics of developmental and epileptic Encephalopathies. Epilepsy Curr. 2020;20(2):90–96. doi: 10.1177/1535759720906118. - DOI - PMC - PubMed
    1. Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, et al. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet. 2017;101:664–685. doi: 10.1016/j.ajhg.2017.09.008. - DOI - PMC - PubMed
    1. Farooqi AA, Javeed MK, Javed Z, et al. TRPM channels: same ballpark, different players, and different rules in immunogenetics. Immunogenetics. 2011;63(12):773–787. doi: 10.1007/s00251-011-0570-4. - DOI - PubMed
    1. Nilius B. TRP channels in disease. Biochim Biophys Acta. 1772;2007:805–812. - PubMed

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